Three families with Perry syndrome from distinct parts of the world

OBJECTIVES: Perry syndrome consists of autosomal dominant Parkinsonism, depression, weight loss, and central hypoventilation. Eight mutations in 16 families have been reported: p.F52L, p.G67D, p.G71R, p.G71E, p.G71A, p.T72P, p.Q74P, and p.Y78C located in exon 2 of the dynactin 1 (DCTN1) gene on chro...

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Detalhes bibliográficos
Main Authors: Tacik, Pawel, Fiesel, Fabienne C., Fujioka, Shinsuke, Ross, Owen A., Pretelt, Felipe, Cardona, Camilo Castañeda, Kidd, Alexa, Hlavac, Michael, Raizis, Anthony, Okun, Michael S., Traynor, Sharleen, Strongosky, Audrey J., Springer, Wolfdieter, Wszolek, Zbigniew K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4125456/
https://ncbi.nlm.nih.gov/pubmed/24881494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2014.05.004
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